MUTYH-Associated Polyposis (MUTYH) 2 Mutations
2004911
Ordering Recommendation
Acceptable diagnostic or predictive test for MUTYH-associated polyposis in Northern European Caucasians. For non-Caucasians, order MUTYH-Associated Polyposis (MUTYH) Sequencing (2006191).
Mnemonic
MYH SEQ
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
7-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
- Patient Preparation
- Collect
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
Interpretive Data
Background Information for MUTYH-Associated Polyposis (MUTYH) 2 Mutations:
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Note
CPT Code(s)
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2004912 | MUTYH-Associated Polyposis Specimen | 31208-2 |
| 2004913 | MUTYH-Associated Polyposis 2 Mut Interp | 40959-9 |
Aliases
- Familial Adenomatous Polyposis
- MAP
- MAP mutation assay
- MYH-Associated Polyposis 2 Mutations